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Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.
Clin Chem. 2019 Oct;65(10):1295-1306. doi: 10.1373/clinchem.2019.305391. Epub 2019 Aug 2.
Clin Chem. 2019.
PMID: 31375477
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.
Riemersma M, Froese DS, van Tol W, Engelke UF, Kopec J, van Scherpenzeel M, Ashikov A, Krojer T, von Delft F, Tessari M, Buczkowska A, Swiezewska E, Jae LT, Brummelkamp TR, Manya H, Endo T, van Bokhoven H, Yue WW, Lefeber DJ.
Riemersma M, et al. Among authors: van tol w.
Chem Biol. 2015 Dec 17;22(12):1643-52. doi: 10.1016/j.chembiol.2015.10.014. Epub 2015 Dec 10.
Chem Biol. 2015.
PMID: 26687144
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O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery.
van Tol W, Wessels H, Lefeber DJ.
van Tol W, et al.
Curr Opin Struct Biol. 2019 Jun;56:107-118. doi: 10.1016/j.sbi.2018.12.006. Epub 2019 Jan 30.
Curr Opin Struct Biol. 2019.
PMID: 30708323
Free article.
Review.
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Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
van Tol W, Michelakakis H, Georgiadou E, van den Bergh P, Moraitou M, Papadimas GK, Papadopoulos C, Huijben K, Alsady M, Willemsen MA, Lefeber DJ.
van Tol W, et al.
J Inherit Metab Dis. 2019 Sep;42(5):984-992. doi: 10.1002/jimd.12095. Epub 2019 Apr 23.
J Inherit Metab Dis. 2019.
PMID: 30931530
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A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.
van Tol W, Ashikov A, Korsch E, Abu Bakar N, Willemsen MA, Thiel C, Lefeber DJ.
van Tol W, et al.
JIMD Rep. 2019 Sep 30;50(1):31-39. doi: 10.1002/jmd2.12060. eCollection 2019 Nov.
JIMD Rep. 2019.
PMID: 31741824
Free PMC article.
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Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs.
van Scherpenzeel M, Conte F, Büll C, Ashikov A, Hermans E, Willems A, van Tol W, Kragt E, Noga M, Moret EE, Heise T, Langereis JD, Rossing E, Zimmermann M, Rubio-Gozalbo ME, de Jonge MI, Adema GJ, Zamboni N, Boltje T, Lefeber DJ.
van Scherpenzeel M, et al. Among authors: van tol w.
Glycobiology. 2022 Mar 30;32(3):239-250. doi: 10.1093/glycob/cwab106.
Glycobiology. 2022.
PMID: 34939087
Free PMC article.
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A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.
Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V.
Van den Bergh PYK, et al. Among authors: van tol w.
Neuromuscul Disord. 2017 Nov;27(11):1043-1046. doi: 10.1016/j.nmd.2017.07.006. Epub 2017 Jul 17.
Neuromuscul Disord. 2017.
PMID: 28803818
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Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046].
Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V.
Van den Bergh PYK, et al. Among authors: van tol w.
Neuromuscul Disord. 2018 Jan;28(1):101. doi: 10.1016/j.nmd.2017.11.012. Epub 2017 Dec 12.
Neuromuscul Disord. 2018.
PMID: 29246662
No abstract available.
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